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Angelman Syndrome: Insights into Genomic Imprinting and Neurodevelopmental Phenotypes
Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent adva...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2011
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3116240/ https://ncbi.nlm.nih.gov/pubmed/21592595 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tins.2011.04.001 |
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